How It All Began

Jason started Preschool in fall of 2010; just celebrating his 4th birthday that August. We decided to put Jason in the 3 year old class because he was a young four and had never been in a daycare setting before. He had trouble adjusting, like many kids do. He (we) cried when he was dropped off, and was a bit intimidated by the children. We were told he will come around, and he did a little.

After weeks of closely working with Jason his teachers and the director of his nursery school called us in for a conference early December 2010 and our story begins.

Something just doesn’t seem right Jason’s preschool teachers told us, he’s just not performing age appropriately: His speech and vocabulary, expressive and receptive language skills (taking information in and saying things back), fine motor (writing, coloring, drawing, cutting), and social skills. We asked tons of questions and listened to their suggestions. We were instructed to contact our town and request a learning evaluation for Jason. As any parent would do, we listened to their concern and respected their experience with young children and made the necessary arrangements to find out how to help our little boy.

As parents we “knew” they were onto something, we saw Jason was a little different maturity wise than other kids his age and socially was not the most outgoing with children his age; he had many sensory issues as well. When we would express our concerns friends and family would always reassure us, “my child is or was like that too”, “he’ll do it when he is ready”, “he has never been in school before”… but this time we listened to the teachers, even though some friends and family told us to not be so concerned about the conference. Mommy instincts kicked in and Daddy backed me 100%, (Just like he did when Justin wasn’t talking at all, at 15 months, and I got him speech therapy, when all in our lives thought we were crazy; he’ll talk when he was ready; (and now Justin has the speech of an average 3 year old.)

We ran into some snags, a learning evaluation for Jason could run us until May, following the state guidelines/timelines, Jason will then be really behind. We need to help him now, we worried. Insurance doesn’t cover developmental delayed problems or evaluations, he needs to be diagnosed learning disabled to get help from the state of NJ; we were put on 9 month waiting lists to make an appointment with developmental specialists, the frustration was endless. We ran into so many delays and dead ends trying to pinpoint the problem. Jason’s school mentioned seeing signs of Autism in some of his behaviors. That was our answer; insurance covered a pediatric neurologist, Justin saw one when he was 2 weeks old. I was not going to sit back and wait for Jason to hopefully catch up. We needed to help him now.

We made our appointment to revisit Dr. Judy Woo, a pediatric neurologist, in Fair Lawn, NJ, December 22, 2010. Our visit was ordinary. The usual questions, medical history, family history, watching Jason play, playing with Jason, and more questions. We were told “Autistic –No, Hyperactive Yes- BUT and then she asked the question that changed our lives “Did you take notice that he doesn’t really look like either of you?” We looked at each other confused. We did wonder whose cute little nose he had, but EVERYONE we knew insisted he looked like Daddy and some said Grandpa from the minute he was born.

Dr. Woo started pointing out Jason’s facial features and head, hands and feet, and his belly as some symptoms and then referenced back to Jason’s medical history as also symptoms. She told us she believed (but could not diagnose) that Jason has a rare genetic disease called Mucopolysaccharidosis, and urged us to see a genetic doctor as soon as possible. She ultimately led us on our path to confirming MPS.

The next day I received a call from our pediatrician explaining that Dr. Woo called him and they made us an appointment with the genetic team at Hackensack University Medical Center for January, 18 2011. I knew right at that moment this was quite serious. It was 2 days from Christmas, so we promised ourselves to stay off the internet and not to tell our family anything until that appointment. Not the easiest thing to do and so that begins our sleepless nights and runaway thought filled with fear and unknown.